Document Detail


The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests.
MedLine Citation:
PMID:  21382365     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Objective We aimed to prepare dried-blood spot (DBS) quality control (QC) materials for lysosomal storage disease (LSD) screening tests and to determine optimum blood and DBS storage conditions. METHODS: We compared enzyme activities of five LSD markers in adult blood, umbilical-cord blood, and leukocyte-reduced blood. We measured activities in liquid blood and DBSs after predetermined intervals at controlled temperatures and humidities. RESULTS: Lysosomal-enzyme activity levels in umbilical-cord blood mimicked those in newborn screening samples. Lysosomal-enzyme activities in leukocyte-reduced blood were lower than in LSD-positive patient samples. Enzyme activities were stable in refrigerated liquid blood for 32days and in frozen DBSs stored at low humidity for a year. Activity losses from DBSs after 34days at 37±1°C were 35-66% in low humidity and 61-100% in high humidity. CONCLUSIONS: Umbilical-cord blood is the preferred matrix for LSD-normal DBS QC materials. Leukocyte-reduced blood is lysosomal enzyme-deficient. Failure to control humidity during DBS storage results in loss of lysosomal-enzyme activities.
Authors:
B W Adam; J J Orsini; M Martin; E M Hall; S D Zobel; M Caggana; W H Hannon
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-4
Journal Detail:
Title:  Clinical biochemistry     Volume:  -     ISSN:  1873-2933     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0133660     Medline TA:  Clin Biochem     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010. Published by Elsevier Inc.
Affiliation:
Newborn Screening Quality Assurance Program, 4770 Buford Highway NE, Centers for Disease Control and Prevention (CDC), Atlanta, GA 30341, USA.
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